We report a child of tuberous sclerosis with a rare association of congenital lymphedema and cardiacrhabdomyoma since birth.

A 3-month-old female child, born of nonconsanguineous marriage , was detected soon after birthto have nonpitting edema of left lower limb extending from thigh to foot. Neurosonogram and USG abdomenwere normal. Echocardiography revealed a 9 x 9 mm rounded pedunculated mass in LV outflow tract, attachedto aorto-mitral continuity junction. Physical examination revealed multiple hypopigmented macules in right upperlimb and trunk suggestive of ash leaf macules. X-ray chest and ECG was normal for age. Blood investigationswere normal. The child’s father had a history of seizure disorder and was on antiepileptic drugs. His physicalexamination revealed hypopigmented to depigmented macules in both upper limbs and trunk, skin coloredplaques with irregular border in lumbosacral region and multiple hyperpigmented to erythematous papules andsmall plaques over face suggestive of ash leaf macules, shagreen patches, and angiofibromas respectively.

Lymphedema is a chronic tissue swelling that is most commonly manifested in a limb. This condition resultsfrom impaired lymph drainage in the presence of normal capillary filtration. The three main consequences oflymphatic failure are lymphedema, infection and, very rarely, cancer [1]. Most forms of primary lymphedemaare thought to be caused by a congenital abnormality of the lymphatic system and present at or soon after birth.Cardiac rhabdomyomas are intracavitary or intramural tumors that are present in nearly 50 to 70% of infants withtuberous sclerosis (TSC). Most children are asymptomatic. Symptoms are attributed to the presence of intracardiac obstruction, myocardial involvement, and rhythm disturbances [2].

Congenital lymphedema is a rare association with tuberous sclerosis with only few cases reported earlier[3,4]. The previous reported patients were females but unlike our child, they presented with history of multipleseizures while our child had no seizures but instead had a cardiac rhabdomyoma detected incidentally. It isinteresting to note that pulmonary lymphangiomyomatosis seen in tuberous sclerosis similarly occursonly in women which is hypothesized to be due to the fact that estrogen regulates TSC gene signalling and, perhaps,also the migration of TSC2-deficient cells [3].

The pathophysiology of congenital lymphedema in tuberous sclerosis is yet unclear. Previous authors havesuggested that it could be due to the dysplastic development of lymphatic system in the affected limb as part of TSCgene mutation as this gene regulates cell growth, proliferation and migration. Congenital lymphedema mayalso be due to the abnormal smooth cell hypertrophy in subcutaneous tissue which externally compresses thesuperficial lymphatics. An increased awareness of this association may hel p pediatricians suspect tuberoussclerosis in a female child when congenital lymphedema is the sole external manifestation.